Autosomal dominant familial spastic paraplegia: description of a large New England family and a study of management.
A large New England family with autosomal dominant familial spastic paraplegia (ADFSP) is described. In a pedigree of 173 family members, 71 affected individuals were identified. 16 cases examined by the authors are described with regard to the natural history of ADFSP in this family, and a staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, ADFSP was found to have a homogeneous clinical course, with nearly complete penetrance. Onset, with involvement limited to the lower extremities, occurred by three years of age, after which no significant progression was noted. Early, aggressive habilitative care may result in more functional ambulation for the youngest family members.
Cooley
W C
WC
Genetics and Child Development Center, Dartmouth Medical School, Hanover, New Hampshire 03756.
Melkonian
G
G
Moses
C
C
Moeschler
J B
JB
D000293:Adolescent; D000328:Adult; D001915:Braces; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003131:Combined Modality Therapy; D003446:Crutches; D005260:Female; D005684:Gait / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D009511:New England; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000534:rehabilitation